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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
9
Cytoband
p24.1
Chromosome location (bp)
5629025 - 5776557
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
The RIC1-RGP1 complex acts as a guanine nucleotide exchange factor (GEF), which activates RAB6A by exchanging bound GDP for free GTP, and may thereby be required for efficient fusion of endosome-derived vesicles with the Golgi compartment 1. The RIC1-RGP1 complex participates in the recycling of mannose-6-phosphate receptors 2. Required for phosphorylation and localization of GJA1 3. Is a regulator of procollagen transport and secretion, and is required for correct cartilage morphogenesis and development of the craniofacial skeleton 4....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Guanine-nucleotide releasing factor
Gene summary (Entrez)i
Useful information about the gene from Entrez
Enables guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in several processes, including positive regulation of GTPase activity; regulation of extracellular matrix constituent secretion; and retrograde transport, endosome to Golgi. Located in cytosol and membrane. Part of Ric1-Rgp1 guanyl-nucleotide exchange factor complex. [provided by Alliance of Genome Resources, Apr 2022]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
MEMSAT3 predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000139[Golgi membrane] GO:0003330[regulation of extracellular matrix constituent secretion] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006886[intracellular protein transport] GO:0016020[membrane] GO:0031267[small GTPase binding] GO:0032588[trans-Golgi network membrane] GO:0032991[protein-containing complex] GO:0034066[Ric1-Rgp1 guanyl-nucleotide exchange factor complex] GO:0042147[retrograde transport, endosome to Golgi] GO:0042177[negative regulation of protein catabolic process] GO:0043547[positive regulation of GTPase activity] GO:1904888[cranial skeletal system development]
MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139[Golgi membrane] GO:0003330[regulation of extracellular matrix constituent secretion] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006886[intracellular protein transport] GO:0016020[membrane] GO:0031267[small GTPase binding] GO:0032588[trans-Golgi network membrane] GO:0032991[protein-containing complex] GO:0034066[Ric1-Rgp1 guanyl-nucleotide exchange factor complex] GO:0042147[retrograde transport, endosome to Golgi] GO:0042177[negative regulation of protein catabolic process] GO:0043547[positive regulation of GTPase activity] GO:1904888[cranial skeletal system development]
MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139[Golgi membrane] GO:0003330[regulation of extracellular matrix constituent secretion] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006886[intracellular protein transport] GO:0016020[membrane] GO:0031267[small GTPase binding] GO:0032588[trans-Golgi network membrane] GO:0032991[protein-containing complex] GO:0034066[Ric1-Rgp1 guanyl-nucleotide exchange factor complex] GO:0042147[retrograde transport, endosome to Golgi] GO:0042177[negative regulation of protein catabolic process] GO:0043547[positive regulation of GTPase activity] GO:1904888[cranial skeletal system development]
MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
